Van Acker K J, Roodhooft A M, Van Bever H
Eur J Pediatr. 1986 Apr;145(1-2):66-9. doi: 10.1007/BF00441857.
Two infants are described with a fulminant disorder characterised by profound circulatory collaps and shock, generalised convulsions and unremitting coma, bleeding due to severe DIC, fever, diarrhoea, metabolic acidosis and renal and hepatic failure. Both infants died shortly after onset of the symptoms. Autopsy mainly revealed haemorrhages in different organs, anoxaemic lesions in the brain and a normal structure of liver and pancreas. No causative agent could be demonstrated. We believe that both patients suffered from haemorrhagic shock and encephalopathy, a mostly fatal disorder which has recently been described. Although the clinical and biochemical features are very distinctive, this syndrome is probably heterogeneous and its differentiation from some other disorders may be difficult. Its pathogenesis is unknown but there are some indications that intravascular activity of trypsin may play a role. During a study of the two families we obtained abnormal results of immunologic tests in most members: the interpretation of this finding remains conjectural. Haemorrhagic shock and encephalopathy may occur more frequently than the restricted literature on this subject suggests. Future studies will have to deal with the question of identity and pathogenesis.
本文描述了两名患有暴发性疾病的婴儿，其特征为严重的循环衰竭和休克、全身性惊厥和持续昏迷、因严重弥散性血管内凝血导致的出血、发热、腹泻、代谢性酸中毒以及肝肾衰竭。两名婴儿均在症状出现后不久死亡。尸检主要发现不同器官有出血、脑缺氧性病变以及肝脏和胰腺结构正常。未发现致病因子。我们认为这两名患者均患有出血性休克和脑病，这是一种最近才被描述的大多致命的疾病。尽管临床和生化特征非常独特，但该综合征可能具有异质性，且可能难以与其他一些疾病相鉴别。其发病机制尚不清楚，但有一些迹象表明胰蛋白酶的血管内活性可能起作用。在对这两个家庭的研究中，我们发现大多数家庭成员的免疫测试结果异常：这一发现的解释仍属推测。出血性休克和脑病的发生频率可能比关于该主题的有限文献所提示的更高。未来的研究将不得不处理其同一性和发病机制的问题。
